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julesjacobsen committed May 17, 2024
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56 changes: 42 additions & 14 deletions api/pheval/cli/index.html
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Expand Up @@ -1758,7 +1758,9 @@ <h6 id="create-spiked-vcfs">create-spiked-vcfs</h6>
phenopacket_dir (Path): Path to a directory containing Phenopacket files (optional).
output_dir (Path): The directory to store the generated spiked VCF file(s).
hg19_template_vcf (Path): Path to the hg19 template VCF file (optional).
hg38_template_vcf (Path): Path to the hg38 template VCF file (optional).</p>
hg38_template_vcf (Path): Path to the hg38 template VCF file (optional).
hg19_vcf_dir (Path): Path to the directory containing the hg19 VCF files (optional).
hg38_vcf_dir (Path): Path to the directory containing the hg38 VCF files (optional).</p>
<p><strong>Usage:</strong></p>
<div class="highlight"><pre><span></span><code>pheval-utils create-spiked-vcfs [OPTIONS]
</code></pre></div>
Expand Down Expand Up @@ -1788,13 +1790,25 @@ <h6 id="create-spiked-vcfs">create-spiked-vcfs</h6>
<tr>
<td><code>--hg19-template-vcf</code>, <code>-hg19</code></td>
<td>Path</td>
<td>Template hg19 VCF file</td>
<td>Template hg19 VCF file NOTE: This argument is mutually exclusive with arguments: [hg19_vcf_dir].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg38-template-vcf</code>, <code>-hg38</code></td>
<td>Path</td>
<td>Template hg38 VCF file</td>
<td>Template hg38 VCF file NOTE: This argument is mutually exclusive with arguments: [hg38_vcf_dir].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg19-vcf-dir</code>, <code>-hg19-dir</code></td>
<td>Path</td>
<td>Path to directory containing hg19 VCF templates. NOTE: This argument is mutually exclusive with arguments: [hg19_template_vcf].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg38-vcf-dir</code>, <code>-hg38-dir</code></td>
<td>Path</td>
<td>Path to directory containing hg38 VCF templates. NOTE: This argument is mutually exclusive with arguments: [hg38_template_vcf].</td>
<td>None</td>
</tr>
<tr>
Expand Down Expand Up @@ -1836,19 +1850,19 @@ <h6 id="generate-stats-plot">generate-stats-plot</h6>
<tr>
<td><code>--gene-analysis</code> / <code>--no-gene-analysis</code></td>
<td>boolean</td>
<td>Specify analysis for gene prioritisation NOTE: This argument is mutually exclusive with arguments: [variant_analysis, disease_analysis].</td>
<td>Specify analysis for gene prioritisation NOTE: This argument is mutually exclusive with arguments: [disease_analysis, variant_analysis].</td>
<td><code>False</code></td>
</tr>
<tr>
<td><code>--variant-analysis</code> / <code>--no-variant-analysis</code></td>
<td>boolean</td>
<td>Specify analysis for variant prioritisation NOTE: This argument is mutually exclusive with arguments: [disease_analysis, gene_analysis].</td>
<td>Specify analysis for variant prioritisation NOTE: This argument is mutually exclusive with arguments: [gene_analysis, disease_analysis].</td>
<td><code>False</code></td>
</tr>
<tr>
<td><code>--disease-analysis</code> / <code>--no-disease-analysis</code></td>
<td>boolean</td>
<td>Specify analysis for disease prioritisation NOTE: This argument is mutually exclusive with arguments: [variant_analysis, gene_analysis].</td>
<td>Specify analysis for disease prioritisation NOTE: This argument is mutually exclusive with arguments: [gene_analysis, variant_analysis].</td>
<td><code>False</code></td>
</tr>
<tr>
Expand All @@ -1874,18 +1888,20 @@ <h6 id="generate-stats-plot">generate-stats-plot</h6>
<h6 id="prepare-corpus">prepare-corpus</h6>
<p>Prepare a corpus of Phenopackets for analysis, optionally checking for complete variant records and updating
gene identifiers.</p>
<div class="highlight"><pre><span></span><code>Args:
<p>Args:
phenopacket_dir (Path): The path to the directory containing Phenopackets.
variant_analysis (bool): If True, check for complete variant records in the Phenopackets.
gene_analysis (bool): If True, check for complete gene records in the Phenopackets.
disease_analysis (bool): If True, check for complete disease records in the Phenopackets.
gene_identifier (str): Identifier for updating gene identifiers, if applicable.
hg19_template_vcf (Path): Path to the hg19 template VCF file (optional), to spike variants into
VCFs for variant-based analysis at least one of hg19_template_vcf or hg38_template_vcf is required.
hg38_template_vcf (Path): Path to the hg38 template VCF file (optional), to spike variants into
VCFs for variant-based analysis at least one of hg19_template_vcf or hg38_template_vcf is required.
hg19_template_vcf (Path): Path to the hg19 template VCF file (optional).
hg38_template_vcf (Path): Path to the hg38 template VCF file (optional).
hg19_vcf_dir (Path): Path to the directory containing the hg19 VCF files (optional).
hg38_vcf_dir (Path): Path to the directory containing the hg38 VCF files (optional).
output_dir (Path): The directory to save the prepared Phenopackets and, optionally, VCF files.
</code></pre></div>
Notes:
To spike variants into VCFs for variant-based analysis at least one of hg19_template_vcf, hg38_template_vcf,
hg19_vcf_dir or hg38_vcf_dir is required.</p>
<p><strong>Usage:</strong></p>
<div class="highlight"><pre><span></span><code>pheval-utils prepare-corpus [OPTIONS]
</code></pre></div>
Expand Down Expand Up @@ -1933,13 +1949,25 @@ <h6 id="prepare-corpus">prepare-corpus</h6>
<tr>
<td><code>--hg19-template-vcf</code>, <code>-hg19</code></td>
<td>Path</td>
<td>Template hg19 VCF file</td>
<td>Template hg19 VCF file NOTE: This argument is mutually exclusive with arguments: [hg19_vcf_dir].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg38-template-vcf</code>, <code>-hg38</code></td>
<td>Path</td>
<td>Template hg38 VCF file</td>
<td>Template hg38 VCF file NOTE: This argument is mutually exclusive with arguments: [hg38_vcf_dir].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg19-vcf-dir</code>, <code>-hg19-dir</code></td>
<td>Path</td>
<td>Path to directory containing hg19 VCF templates. NOTE: This argument is mutually exclusive with arguments: [hg19_template_vcf].</td>
<td>None</td>
</tr>
<tr>
<td><code>--hg38-vcf-dir</code>, <code>-hg38-dir</code></td>
<td>Path</td>
<td>Path to directory containing hg38 VCF templates. NOTE: This argument is mutually exclusive with arguments: [hg38_template_vcf].</td>
<td>None</td>
</tr>
<tr>
Expand Down
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